ClinVar Miner

Submissions for variant NM_002617.4(PEX10):c.427C>T (p.Arg143Cys)

gnomAD frequency: 0.00009  dbSNP: rs199667764
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592151 SCV000705045 uncertain significance not provided 2017-01-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001052836 SCV001217066 uncertain significance Peroxisome biogenesis disorder, complementation group 7 2025-01-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 143 of the PEX10 protein (p.Arg143Cys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with PEX10-related conditions. ClinVar contains an entry for this variant (Variation ID: 499521). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001272166 SCV001453861 uncertain significance Zellweger spectrum disorders 2019-10-28 no assertion criteria provided clinical testing

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